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A mutation in the JAK2 kinase (V617F) is strongly associated with polycythemia vera. [18] [19] While it is a JAK2 V617F mutation in 95% of patients, JAK2 exon 12 mutations have also been observed. [20] The V617F mutation is not inherited, but develops as a somatic mutation in the erythroid progenitor cells. [21]
The most common symptoms are bleeding (due to dysfunctional platelets), blood clots (e.g., deep vein thrombosis or pulmonary embolism), fatigue, headache, nausea, vomiting, abdominal pain, visual disturbances, dizziness, fainting, and numbness in the extremities; the most common signs are increased white blood cell count, reduced red blood cell ...
Janus kinase 2 (commonly called JAK2) is a non-receptor tyrosine kinase.It is a member of the Janus kinase family and has been implicated in signaling by members of the type II cytokine receptor family (e.g. interferon receptors), the GM-CSF receptor family (IL-3R, IL-5R and GM-CSF-R), the gp130 receptor family (e.g., IL-6R), and the single chain receptors (e.g. Epo-R, Tpo-R, GH-R, PRL-R).
Symptoms can include abdominal pain, nausea, vomiting, diarrhea, loss of appetite, weight loss, and edema. [1] People also have chronic malabsorption, which causes deficiencies in iron, ferritin, calcium, magnesium, folate, vitamin D and vitamin B12. [1] Some patients may have recurrent respiratory infections associated with ...
Polycythemia vera (PV) is associated most often with the JAK2 V617F mutation greater than 95% of cases, whereas the remainder has a JAK2 exon 12 mutations. High hemoglobin or hematocrit counts are required, as is a bone marrow examination showing "prominent erythroid , granulocytic and megakaryocytic proliferation with pleomorphic, mature ...
abdominal pain was present in 95% (median of 24 hours duration). The other three patients presented with shock and metabolic acidosis. nausea in 44%; vomiting in 35%; diarrhea in 35%; heart rate > 100 in 33%; rectal bleeding in 16% (not stated if this number also included occult blood – presumably not) constipation in 7%
The two inflammatory conditions are quite indistinguishable based on physical manifestations. Patients with diverticulitis will present with nausea, vomiting, fever, elevated leukocyte count, rebound tenderness, and will have more extensive lower abdominal pain than patients with epiploic appendagitis.
[2] [13] Specifically in children and adolescents, anxiety and depression may present as FGID-associated somatic complaints, such as nausea, vomiting, and abdominal pain. [14] Similarly, anxiety in individuals with FGIDs is linked to greater pain severity, frequency, duration, chronicity, and disabling effects. [15]